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gangliosidosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0017719

A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. [ MESH:D005733 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:12510 (Orphanet:309144)
  • UMLS:C0017083 (Orphanet:309144/e)
  • Orphanet:309144 (MONDO:equivalentTo)
  • SCTID:50967008 (MONDO:equivalentTo)
  • DOID:2368 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://purl.obolibrary.org/obo/DOID_2368

http://www.orpha.net/ORDO/Orphanet_309144

http://identifiers.org/snomedct/50967008

http://linkedlifedata.com/resource/umls/id/C0017083

id

MONDO:0017719

Term relations

Subclass of: